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Current Issue of PLoSBiology


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December 2024

Brain organoids are powerful tools to decipher the cellular mechanisms involved during human brain development. Guguin et al. generated human cortical organoids to model the impact of a specific variant of the centrosomal RTTN gene to pinpoint cellular alterations leading to microcephaly in patients. This image shows a section of a cortical organoid, harvested at 46 days in vitro, that exhibits neuronal progenitors (magenta) organised into neural rosettes. Each rosette mimics a neural tube with highly proliferative neural progenitors lining the surface of the rosette lumen (delineated in yellow) that then differentiate radially into neurons (green). See Guguin et al. Download December’s cover page.

Image Credit: Justine Guguin

Review

Cell-free placental DNA: What do we really know?

Natalie Yuen, Melanie Lemaire, Samantha L. Wilson

Research Articles

Different germline variants in the XPA gene are associated with severe, intermediate, or mild neurodegeneration in xeroderma pigmentosum patients

Jeffrey P. Sagun, Sikandar G. Khan, Kyoko Imoto, Deborah Tamura, Kyu-Seon Oh, John J. DiGiovanna, Kenneth H. Kraemer

The RNA-dependent association of phosphatidylinositol 4,5-bisphosphate with intrinsically disordered proteins contribute to nuclear compartmentalization

Martin Sztacho, Jakub Červenka, Barbora Šalovská, Ludovica Antiga, Peter Hoboth, Pavel Hozák

FABIO: TWAS fine-mapping to prioritize causal genes for binary traits

Haihan Zhang, Kevin He, Zheng Li, Lam C. Tsoi, Xiang Zhou

Disentangling the consequences of type 2 diabetes on targeted metabolite profiles using causal inference and interaction QTL analyses

Ozvan Bocher, Archit Singh, Yue Huang, Urmo Võsa, Ene Reimann, Ana Arruda, Andrei Barysenska, Anastassia Kolde, Nigel W. Rayner, Estonian Biobank research team, Tõnu Esko, Reedik Mägi, Eleftheria Zeggini

Functional investigation suggests CNTNAP5 involvement in glaucomatous neurodegeneration obtained from a GWAS in primary angle closure glaucoma

Sudipta Chakraborty, Jyotishman Sarma, Shantanu Saha Roy, Sukanya Mitra, Sayani Bagchi, Sankhadip Das, Sreemoyee Saha, Surajit Mahapatra, Samsiddhi Bhattacharjee, Mahua Maulik, Moulinath Acharya

Cysteine Rich Intestinal Protein 2 is a copper-responsive regulator of skeletal muscle differentiation and metal homeostasis

Odette Verdejo-Torres, David C. Klein, Lorena Novoa-Aponte, Jaime Carrazco-Carrillo, Denzel Bonilla-Pinto, Antonio Rivera, Arpie Bakhshian, Fa’alataitaua M. Fitisemanu, Martha L. Jiménez-González, Lyra Flinn, Aidan T. Pezacki, Antonio Lanzirotti, Luis Antonio Ortiz Frade, Christopher J. Chang, Juan G. Navea, Crysten E. Blaby-Haas, Sarah J. Hainer, Teresita Padilla-Benavides

Separable roles of the DNA damage response kinase Mec1ATR and its activator Rad24RAD17 during meiotic recombination

Margaret R. Crawford, Jon A. Harper, Tim J. Cooper, Marie-Claude Marsolier-Kergoat, Bertrand Llorente, Matthew J. Neale

Hsp90 and cochaperones have two genetically distinct roles in regulating eEF2 function

Melody D. Fulton, Danielle J. Yama, Ella Dahl, Jill L. Johnson

Cbf11 and Mga2 function together to activate transcription of lipid metabolism genes and promote mitotic fidelity in fission yeast

Anna Marešová, Michaela Grulyová, Miluše Hradilová, Viacheslav Zemlianski, Jarmila Princová, Martin Převorovský

Acetylation of the yeast Hsp40 chaperone protein Ydj1 fine-tunes proteostasis and translational fidelity

Siddhi Omkar, Megan M. Mitchem, Joel R. Hoskins, Courtney Shrader, Jake T. Kline, Nitika, Luca Fornelli, Sue Wickner, Andrew W. Truman

Loss of Notch dimerization perturbs intestinal homeostasis by a mechanism involving HDAC activity

Quanhui Dai, Kristina Preusse, Danni Yu, Rhett A. Kovall, Konrad Thorner, Xinhua Lin, Raphael Kopan

The Tumor-Associated Calcium Signal Transducer 2 (TACSTD2) oncogene is upregulated in cystic epithelial cells revealing a potential new target for polycystic kidney disease

Abigail O. Smith, William Tyler Frantz, Kenley M. Preval, Yvonne J. K. Edwards, Craig J. Ceol, Julie A. Jonassen, Gregory J. Pazour

The cells are all-right: Regulation of the Lefty genes by separate enhancers in mouse embryonic stem cells

Tiegh Taylor, Hongyu Vicky Zhu, Sakthi D. Moorthy, Nawrah Khader, Jennifer A. Mitchell

Integrin adhesome axis inhibits the RPM-1 ubiquitin ligase signaling hub to regulate growth cone and axon development

Jonathan Amezquita, Muriel Desbois, Karla J. Opperman, Joseph S. Pak, Elyse L. Christensen, Nikki T. Nguyen, Karen Diaz-Garcia, Melissa A. Borgen, Brock Grill

Adjusting for principal components can induce collider bias in genome-wide association studies

Kelsey E. Grinde, Brian L. Browning, Alexander P. Reiner, Timothy A. Thornton, Sharon R. Browning

A Taybi-Linder syndrome-related RTTN variant impedes neural rosette formation in human cortical organoids

Justine Guguin, Ting-Yu Chen, Silvestre Cuinat, Alicia Besson, Eloïse Bertiaux, Lucile Boutaud, Nolan Ardito, Miren Imaz Murguiondo, Sara Cabet, Virginie Hamel, Sophie Thomas, Bertrand Pain, Patrick Edery, Audrey Putoux, Tang K. Tang, Sylvie Mazoyer, Marion Delous

Spop deficiency impairs adipogenesis and promotes thermogenic capacity in mice

Qinghe Li, Yuhong Liu, Yuanyuan Wang, Qi Zhang, Na Zhang, Danli Song, Fei Wang, Qianmei Gao, Yuxin Chen, Gaomeng Zhang, Jie Wen, Guiping Zhao, Li Chen, Yu Gao

Multiple independent genetic code reassignments of the UAG stop codon in phyllopharyngean ciliates

Jamie McGowan, Thomas A. Richards, Neil Hall, David Swarbreck

Runx3, Brn3a and Isl1 interplay orchestrates the transcriptional program in the early stages of proprioceptive neuron development

Kira Orlovsky, Elena Appel, Shay Hantisteanu, Tsviya Olender, Joseph Lotem, Ditsa Levanon, Yoram Groner

Polyploids broadly generate novel haplotypes from trans-specific variation in Arabidopsis arenosa and Arabidopsis lyrata

Magdalena Bohutínská, Eliška Petříková, Tom R. Booker, Cristina Vives Cobo, Jakub Vlček, Gabriela Šrámková, Alžběta Poupětová, Jakub Hojka, Karol Marhold, Levi Yant, Filip Kolář, Roswitha Schmickl

Decreased Hsp90 activity protects against TDP-43 neurotoxicity in a C. elegans model of amyotrophic lateral sclerosis

Laura Garcia-Toscano, Heather N. Currey, Joshua C. Hincks, Jade G. Stair, Nicolas J. Lehrbach, Nicole F. Liachko

Estimating the proportion of beneficial mutations that are not adaptive in mammals

Thibault Latrille, Julien Joseph, Diego A. Hartasánchez, Nicolas Salamin

Inhibitory KIRs decrease HLA class II-mediated protection in Type 1 Diabetes

Laura Mora-Bitria, Bisrat J. Debebe, Kelly L. Miners, Kristin Ladell, Charandeep Kaur, James A. Traherne, Wei Jiang, David A. Price, Linda Hadcocks, Nicholas A. R. McQuibban, John Trowsdale, F Susan Wong, Nikolas Pontikos, Christoph Niederalt, Becca Asquith

RcsF-independent mechanisms of signaling within the Rcs phosphorelay

Anushya Petchiappan, Nadim Majdalani, Erin Wall, Susan Gottesman

Fitness landscapes of human microsatellites

Ryan J. Haasl, Bret A. Payseur

Methods

TransferGWAS of T1-weighted brain MRI data from UK Biobank

Alexander Rakowski, Remo Monti, Christoph Lippert